Introduction: Hypoglycemia is a significant cause of morbidity in children, yet is challenging to diagnose and treat due to its heterogeneity.
Aim: To describe the diagnoses and clinical characteristics of children with hypoglycemia referred to a tertiary pediatric center.
Methods: This retrospective study included 155 children (86 males, aged 0-18 years) diagnosed with hypoglycemia in 1992-2018, and followed at a single center. Clinical and laboratory data were reviewed and compared according to etiologic diagnoses and age at referral.
Results: The cohort was divided by clinical diagnosis into six groups: ketotic hypoglycemia (KH) (n=45, 29.0%), congenital hyperinsulinemic hypoglycemia (CHH) (n=33, 21.2%), transient HH (n=28, 18.7%), metabolic disorder (n=16, 10.3%), systemic disease/syndrome (n=16, 10.3%) and hormone deficiencies (n=10, 6.4%). Two patients diagnosed with insulinoma were not included in the analysis by groups. At diagnosis, 58 (37.4%) were under age 30 days, 23 (14.8%) aged 1-12 months, 59 (38%) aged 1-6 years and 15 (9.7%) aged 6-18 years. The most common diagnoses were: transient HH (48.3%) and CHH (32.7%) in neonates; CHH (34.8%) and KH (17.4%) in infants; KH (62.7%), metabolic disorders (11.8%) and CHH (10.1%) in children aged 1-6 years; and similar frequencies of KH, metabolic disorders and hormone deficiencies and insulinoma in children older than 6 years. The mean age of patients with CHH was younger than of patients with ketotic hypoglycemia. The mean birth weight of patients with CHH was significantly higher than of those with transient HH, and with systemic disease/syndrome. Patients with transient hyperinsulinism were the youngest at diagnosis; and were born earlier and with lower birth weight than children with the other etiologies. Forty-three patients (27.74%) completed a supervised fasting test as part of the diagnostic evaluation: None was performed during 1992-2000, six were done during 2001- 2010 and 37 during 2011-2018. The test results supported a specific diagnosis in 13 (28.3%) patients. A fasting test was more commonly used in patients with KH (40.0%), metabolic disorders (43.8%) and systemic disease/syndrome (31.2%), than in CHH (15.1%), transient HH (10.7%) and hormone deficiencies (20.0%), P<0.015.
Conclusions: Hypoglycemia etiology is heterogeneous and varies among neonates, infants and children. Work-up should be directed for each age group based on clinical, biochemical and imaging findings, combined with next generation sequencing target panels. The benefit of using a fasting test is questionable, and its use should be considered for each patient individually.
15 Sep 2022 - 17 Sep 2022